ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.693C>T (p.Phe231=)

gnomAD frequency: 0.00002  dbSNP: rs772154148
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001170247 SCV001332807 likely benign Cardiomyopathy 2018-07-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001490888 SCV001695462 likely benign Hypertrophic cardiomyopathy 14 2024-07-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002365821 SCV002662225 likely benign Cardiovascular phenotype 2019-11-01 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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